Concepedia

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, S. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, B. Estournet, Norma B. Romero, Eugenio Mercuri,

The American Journal of Human Genetics · 2001 · 598 citations · 32 references

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References

32

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

Oxana Ibraghimov‐Beskrovnaya, James M. Ervasti, Cynthia J. Leveille et al. · Nature · 1992 · 1.4K citations

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Membrane organization of the dystrophin-glycoprotein complex

James M. Ervasti, Kevin P. Campbell · Cell · 1991 · 1.3K citations

, , +14

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Kazuhiro Kobayashi, Yutaka Nakahori, Masashi Miyake et al. · Nature · 1998 · 804 citations

, , +5

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

A. Leclerc, Xu Zhang, Haluk Topaloğlu et al. · Nature Genetics · 1995 · 628 citations

, , +9

Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Yukio Fukuyama, Makiko Ōsawa, Haruko Suzuki · Brain and Development · 1981 · 471 citations

, , +13